. 2015 Apr 8;23(12):1615–1626. doi: 10.1038/ejhg.2015.51

Table 2. Patients reported in the literature with interstitial 19p13.3 rearrangements.

Patients	Al-Kateb et al ¹⁸	De Smith et al, ¹⁹	Siggberg et al ²¹	Siggberg et al²¹	Risheg et al,²⁰ Pat1	Risheg et al,²⁰ Pat2	Risheg et al,²⁰ Pat3	Nowaczyk et al,²² Pat1	Nowaczyk et al,²² Pat2	Nowaczyk et al,²² Pat3	Nowaczyk et al,²² Pat4	Nowaczyk et al,²² Pat5	Nowaczyk et al,²² Pat6	Nowaczyk et al,²² Pat7	Frequency
Type of rearrangement	Deletion	Deletion	Deletion	Duplication	Deletion	Deletion	Deletion	Deletion	Deletion	Deletion	Deletion	Deletion	Deletion	Deletion	13del/1 dup
Included in our SRO	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y	±	Y	Y	Y	14/14
Includes PIAS4	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y	N	Y	Y	Y	13/14

Gender	F	F	M	M	F	F	M	M	F	M	F	F	M	M	7F/7M
Age at diagnosis	4 yr	17 yr	2 yr	9 yr	23 yr	2 yr	6 yr	10 yr	5.9 yr	3 yr	4 yr	6 yr	2 mo	5 yr	2 mo–23 yr

Growth and develop
Psychom develop delay	+	Mild	+	+	+	+	+	+	+	+	+	+	+	+	14/14
Intellectual disability	+	+	+	Mild	+	+	+	+	+	Mild	Mild	++		++	13/13
Speech delay	+	+	+	+	+	+	+	++	+						9/9
Macro-/microcephaly	+3SD	+4.5SD	+3SD	Micro	Macro relative	+	Macro relative	+2.5SD	−3.5SD	−2.5SD	+3.5SD	+5.5SD	+1SD*	+3.5SD	14/14
Obesity		+													1/1
Proportionate short stature		−													0/1
Overgrowth synd testing		+													1/1

Face
Hypertelorism	+			+				+	+	+	+	+	+		8/8
Downslanting palpebral fissures	+	Upslant	+	−				+	+	+	+	+	+	+	9/11down 1/11 up
Short palpebral fissures				+	+										2/2
Ptosis			Mild	+		+									3/3
Epicanthal folds	+			+											2/2
Wide nasal bridge	+	+		+				+		+	+	+	+	+	9/9
Depressed nose and root	−	−		+											1/3
Philtrum anomalies	Prominent	Short		Short	Hypoplastic		Flat								5/5
Thin upper lip	Tented	+		+				+	+	+	++	+	+	−	9/10
Ear anomalies	+	Dysplastic	+		+	+	+			+		+		+	9/9
High or prom forehead	+	+	+	+		+	+	++	++	+	+	+	+	+	13/13

Neurology
Hypotonia	+	+	+	+		+	+	−	+	+	−	−	−	+Mild	9/13
Behavior		Self injury/agressivity													1/1
Hearing problems	Mild loss	−	Minor problems				Moderate bilateral conductive								3/4
Others															1/1
Cutis aplasia	+	−	+		−	−	−	−	+	−	−	−	−	−	3/13
Urinary reflux							+								1/1
Gastroesophogealreflux	+	−				+		+	+	+	+	+	+	+	9/10
Feeding problems	+	−	+					+	+	+	+	+	+	−	8/10

Abnormal fingers/toes
Ophthalmologic abnormalities				+											1/1
Umbilical hernia	−							−	−	+	+	−	−	−	2/8
Sleeping disorders	−	−				+		+	+	+	−	+	+	+	7/10
Heart disease	+	−	+		+	+	+	+	−	−	+	+	−	−	8/13

Abbreviations: develop, development; dysplast, dysplastic; F, female; M, male; Macro, macrocephaly; Micro, microcephaly; mo, months; N, no; prom, prominent; psychom, psychomotor; SD, standard deviation; synd, syndrome; Y, yes; yr, years. +, feature present; ++, severe feature; −, feature absent. (*) this proband has born after 27 gestational weeks, showing low weight and height, but showed +1SD in OFC. Thus, is considered a relative macrocephaly.